Publications by authors named "Antonio Varone"

Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.

Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.

View Article and Find Full Text PDF

Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy.

Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form.

View Article and Find Full Text PDF

Introduction: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 () gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma, Novartis) was efficacious in improving motor functioning in children with SMA. However, its effects on cognitive and language skills are largely unknown.

View Article and Find Full Text PDF

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle atrophy and weakness. While no specific therapies existed until a few years ago, several effective disease-modifying treatments have become available in recent years. However, there are currently no recommendations on the management of therapy sequencing involving these new treatments.

View Article and Find Full Text PDF

Cardiomyopathies are mostly determined by genetic mutations affecting either cardiac muscle cell structure or function. Nevertheless, cardiomyopathies may also be part of complex clinical phenotypes in the spectrum of neuromuscular (NMD) or mitochondrial diseases (MD). The aim of this study is to describe the clinical, molecular, and histological characteristics of a consecutive cohort of patients with cardiomyopathy associated with NMDs or MDs referred to a tertiary cardiomyopathy clinic.

View Article and Find Full Text PDF

Background: Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and <8.5 kg has been reported in clinical trials. This study examines efficacy and safety predictors in a wide age (22 days-72 months) and weight (3.

View Article and Find Full Text PDF

Nearly all human organs are lined with epithelial tissues, comprising one or multiple layers of tightly connected cells organized into three-dimensional (3D) structures. One of the main functions of epithelia is the formation of barriers that protect the underlining tissues against physical and chemical insults and infectious agents. In addition, epithelia mediate the transport of nutrients, hormones, and other signaling molecules, often creating biochemical gradients that guide cell positioning and compartmentalization within the organ.

View Article and Find Full Text PDF
Article Synopsis
  • - The study focuses on spinal muscular atrophy (SMA), a genetic neurodegenerative disorder, aiming to determine its prevalence and treatment rates in Italy.
  • - An online survey was conducted across 36 Italian referral centers, revealing 1,255 SMA patients with an estimated prevalence of 2.12 per 100,000 people, categorized by SMA type and severity.
  • - Around 85% of patients received treatment, but the percentage varied by severity, showing higher treatment rates in more severe cases (95.77% for type I compared to 79.01% for type III).
View Article and Find Full Text PDF
Article Synopsis
  • The study aimed to identify early indicators of relapse and outcomes in pediatric patients with myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD).* -
  • Researchers analyzed data from 75 children, finding differences in disease presentation based on age; younger patients were more likely to present with acute disseminated encephalomyelitis, while older patients saw more cases of optic neuritis.* -
  • Results highlighted specific early treatment factors, such as starting immunotherapy within 7 days or prolonged corticosteroid use, as associated with lower relapse risks; 21.1% of patients had moderate to severe disability at final follow-up, particularly among those with relapsing disease.*
View Article and Find Full Text PDF

Background: An electrical injury can cause multiple consequences, especially to the nervous system, both peripheral and central. Such consequences may present immediately as well as later on.

Aims Of The Study: To report on a case of a 5-year-old boy with focal refractory status epilepticus after an electrical injury.

View Article and Find Full Text PDF

Spinal muscular atrophy (SMA) is a genetically inherited recessive neuromuscular disease that causes muscular atrophy and weakness. Onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Novartis) is a targeted therapy approved to treat patients with SMA in >40 countries worldwide. This study describes the clinical efficacy and tolerability of gene replacement therapy with onasemnogene abeparvovec over a 3-month period in 9 SMA type 1 patients aged 1.

View Article and Find Full Text PDF

Duchenne muscular dystrophy (DMD) is an X-linked myopathy caused by mutations, in most cases deletions and duplications, in the dystrophin gene. Point mutations account for 13% and stop codon mutations are even rarer. Ataluren was approved for the treatment of DMD caused by nonsense mutations in 2014, and several clinical trials documented its efficacy and safety.

View Article and Find Full Text PDF

Variants in , encoding an assembly factor of mitochondrial respiratory chain complex IV, cause Leigh syndrome (LS) and Charcot-Marie-Tooth type 4K in children and young adolescents. Magnetic resonance imaging (MRI) appearance of enlarged nerve roots with postcontrastographic enhancement is a distinctive feature of hypertrophic neuropathy caused by onion-bulb formation and it has rarely been described in mitochondrial diseases (MDs). Spinal nerve roots abnormalities on MRI are novel findings in LS associated with variants .

View Article and Find Full Text PDF
Article Synopsis
  • - The text discusses Guillain-Barré syndrome (GBS), a group of related autoimmune neuropathies, focusing on a rare variant called bifacial weakness with paresthesias (BFP), which involves facial weakness without other classic symptoms.
  • - A case study of an 8-year-old boy is presented, who experienced sudden facial droop, difficulty with speech and swallowing, along with limb sensations and coordination issues, leading to a diagnosis of "BFP plus" due to unique MRI findings.
  • - The conclusion emphasizes the value of MRI in better understanding GBS variants and improving treatment approaches, particularly in children where symptoms may present atypically.
View Article and Find Full Text PDF

We describe a 13-years-old girl, previously diagnosed with PTPN11-associated Noonan Syndrome (NS), who presented to the pediatric emergency department for fever and drowsiness, which gradually worsened within 48 h. On admission, brain magnetic resonance imaging (MRI) scan showed diffuse, symmetric, multiple, poorly demarcated, confluent hyperintense lesions on MRI T2w-images, located in the Central Nervous System (CNS). In the absence of a better explanation and according to the current diagnostic criteria, a diagnosis of Acute Disseminated Encephalomyelitis (ADEM) was performed.

View Article and Find Full Text PDF

Neurological manifestations, such as encephalitis, meningitis, ischemic, and hemorrhagic strokes, are reported with increasing frequency in patients affected by Coronavirus disease 2019 (COVID-19). In children, acute ischemic stroke is usually multifactorial: viral infection is an important precipitating factor for stroke. We present a case of a child with serological evidence of SARS-CoV-2 infection whose onset was a massive right cerebral artery ischemia that led to a malignant cerebral infarction.

View Article and Find Full Text PDF

Successful translation of in vivo experimental data to human patients is an unmet need and a bottleneck in the development of effective therapeutics. Organ-on-Chip technology aims to address this need by leveraging recent significant advancements in microfabrication and biomaterials, which enable modeling of organs and their functionality. These microengineered chips offer researchers the possibility to recreate critical elements of native tissue architecture such as in vivo relevant tissue-tissue interface, air-liquid interface, and mechanical forces, including mechanical stretch and fluidic shear stress, which are crucial to recapitulate tissue level functions.

View Article and Find Full Text PDF

Background: The World Health Organization (WHO) declared a global pandemic of Covid-19 on 11 March 2020. The lockdown caused a lifestyle changes: an increase in the use of mobile media devices (MMDs), sleep and psychiatric disorders, incorrect habits regarding food and physical activities. We investigate prevalence of admission for seizures at our emergency department (ED), during Italian lockdown, comparing with that of the same period of the previous year (2019), and the relationship with some lifestyle changes.

View Article and Find Full Text PDF

Viral-induced exacerbation of asthma remains a major cause of hospitalization and mortality. New human-relevant models of the airways are urgently needed to understand how respiratory infections may trigger asthma attacks and to advance treatment development. Here, we describe a new human-relevant model of rhinovirus-induced asthma exacerbation that recapitulates viral infection of asthmatic airway epithelium and neutrophil transepithelial migration, and enables evaluation of immunomodulatory therapy.

View Article and Find Full Text PDF

Monitoring subcellular functional and structural changes associated with metabolism is essential for understanding healthy tissue development and the progression of numerous diseases, including cancer, diabetes, and cardiovascular and neurodegenerative disorders. Unfortunately, established methods for this purpose either are destructive or require the use of exogenous agents. Recent work has highlighted the potential of endogenous two-photon excited fluorescence (TPEF) as a method to monitor subtle metabolic changes; however, mechanistic understanding of the connections between the detected optical signal and the underlying metabolic pathways has been lacking.

View Article and Find Full Text PDF